"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "NFIX"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 799402	NM_001365902.3(NFIX):c.28-376A>T	NFIX (M1L)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 2160790	NM_001365902.3(NFIX):c.28-370G>A	NFIX (A3T)	Single nucleotide variant (synonymous variant +3 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2143615	NM_001365902.3(NFIX):c.28-368G>T	NFIX (R7L)	Single nucleotide variant (missense variant +3 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 1960118	NM_001365902.3(NFIX):c.28-355G>A	NFIX (G8R)	Single nucleotide variant (synonymous variant +3 more)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2924846	NM_001365902.3(NFIX):c.28-340GT[6]	NFIX (W16fs)	Microsatellite (frameshift variant +1 more)	Malan overgrowth syndrome +1 more	GUncertain significance
Select item 1088466	NM_001365902.3(NFIX):c.28-327C>T	NFIX (T17M)	Single nucleotide variant (missense variant +1 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2041569	NM_001365902.3(NFIX):c.28-326G>A	NFIX	Single nucleotide variant (synonymous variant +1 more)	Marshall-Smith syndrome +1 more	GBenign
Select item 2196598	NM_001365902.3(NFIX):c.28-322A>G	NFIX (T19A)	Single nucleotide variant (missense variant +1 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2099149	NM_001365902.3(NFIX):c.28-16G>A	NFIX	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2120793	NM_001365902.3(NFIX):c.28-15G>A	NFIX (A4T)	Single nucleotide variant (missense variant +1 more)	Malan overgrowth syndrome +1 more	GBenign
Select item 1951207	NM_001365902.3(NFIX):c.33G>A (p.Glu11=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 661035	NM_001365902.3(NFIX):c.43_49dup (p.Glu17fs)	NFIX (E25fs +4 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 1980223	NM_001365902.3(NFIX):c.42G>A (p.Pro14=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 758814	NM_001365902.3(NFIX):c.48C>T (p.Ile16=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2953979	NM_001365902.3(NFIX):c.55C>T (p.Leu19=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 842270	NM_001365902.3(NFIX):c.60_75dup (p.Phe26fs)	NFIX (F18fs +4 more)	Duplication (frameshift variant +1 more)	Malan overgrowth syndrome +1 more	GPathogenic
Select item 2933692	NM_001365902.3(NFIX):c.66C>T (p.His22=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2001878	NM_001365902.3(NFIX):c.67G>C (p.Val23Leu)	NFIX (V23L +4 more)	Single nucleotide variant (missense variant +1 more)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 1661369	NM_001365902.3(NFIX):c.105G>A (p.Ala35=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 843697	NM_001365902.3(NFIX):c.113G>T (p.Arg38Leu)	NFIX (R30L +4 more)	Single nucleotide variant (missense variant +1 more)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 707679	NM_001365902.3(NFIX):c.117G>A (p.Lys39=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 1071849	NM_001365902.3(NFIX):c.120C>G (p.Tyr40Ter)	NFIX (Y32* +4 more)	Single nucleotide variant (nonsense +1 more)	Marshall-Smith syndrome +1 more	GPathogenic
Select item 1985526	NM_001365902.3(NFIX):c.129G>A (p.Lys43=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 753194	NM_001365902.3(NFIX):c.138G>A (p.Lys46=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2931508	NM_001365902.3(NFIX):c.141G>A (p.Arg47=)	NFIX	Single nucleotide variant (synonymous variant +1 more)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 653227	NM_001365902.3(NFIX):c.143T>C (p.Met48Thr)	NFIX (M1T +5 more)	Single nucleotide variant (missense variant +1 more)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 452926	NM_001365902.3(NFIX):c.143T>A (p.Met48Lys)	NFIX (M48K +5 more)	Single nucleotide variant (missense variant +1 more)	Malan overgrowth syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1453603	NM_001365902.3(NFIX):c.149_155dup (p.Glu53fs)	NFIX (E69fs +5 more)	Duplication (frameshift variant)	Malan overgrowth syndrome +1 more	GPathogenic
Select item 389919	NM_001365902.3(NFIX):c.183G>A (p.Leu61=)	NFIX	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 388099	NM_001365902.3(NFIX):c.186C>G (p.Gly62=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +2 more	GLikely benign
Select item 2092634	NM_001365902.3(NFIX):c.187G>A (p.Glu63Lys)	NFIX (E16K +5 more)	Single nucleotide variant (missense variant)	Malan overgrowth syndrome +1 more	GLikely pathogenic
Select item 798874	NM_001365902.3(NFIX):c.222G>A (p.Arg74=)	NFIX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2951601	NM_001365902.3(NFIX):c.230C>G (p.Ala77Gly)	NFIX (A30G +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2045954	NM_001365902.3(NFIX):c.231C>T (p.Ala77=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 639180	NM_001365902.3(NFIX):c.232A>T (p.Lys78Ter)	NFIX (K70* +5 more)	Single nucleotide variant (nonsense)	Malan overgrowth syndrome +1 more	GPathogenic
Select item 2018700	NM_001365902.3(NFIX):c.235C>T (p.Leu79=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 771267	NM_001365902.3(NFIX):c.252G>T (p.Arg84=)	NFIX	Single nucleotide variant (synonymous variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2924587	NM_001365902.3(NFIX):c.255C>T (p.Pro85=)	NFIX	Single nucleotide variant (synonymous variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2953270	NM_001365902.3(NFIX):c.275_288del (p.Val92fs)	NFIX (V100fs +5 more)	Deletion (frameshift variant)	Marshall-Smith syndrome +1 more	GPathogenic
Select item 1352303	NM_001365902.3(NFIX):c.286_300del (p.Thr96_Pro100del)	NFIX	Deletion (inframe_deletion)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2153185	NM_001365902.3(NFIX):c.288G>A (p.Thr96=)	NFIX	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 654601	NM_001365902.3(NFIX):c.303dup (p.Cys102fs)	NFIX (C101fs +5 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 1039182	NM_001365902.3(NFIX):c.309C>G (p.Cys103Trp)	NFIX (C102W +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 761601	NM_001365902.3(NFIX):c.309C>T (p.Cys103=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2946853	NM_001365902.3(NFIX):c.316_324del (p.Ser106_Pro108del)	NFIX	Deletion (inframe_deletion)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 1320189	NM_001365902.3(NFIX):c.335G>T (p.Gly112Val)	NFIX (G104V +5 more)	Single nucleotide variant (missense variant)	Malan overgrowth syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2945952	NM_001365902.3(NFIX):c.336C>T (p.Gly112=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GBenign
Select item 1076498	NM_001365902.3(NFIX):c.347G>A (p.Arg116Gln)	NFIX (R108Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 739652	NM_001365902.3(NFIX):c.348G>C (p.Arg116=)	NFIX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737796	NM_001365902.3(NFIX):c.357C>T (p.Cys119=)	NFIX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 540464	NM_001365902.3(NFIX):c.358del (p.Leu120fs)	NFIX (L112fs +5 more)	Deletion (frameshift variant)	Marshall-Smith syndrome +1 more	GPathogenic
Select item 2612223	NM_001365902.3(NFIX):c.359T>G (p.Leu120Arg)	NFIX (L120R +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +2 more	GUncertain significance
Select item 2062538	NM_001365902.3(NFIX):c.360G>A (p.Leu120=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 208724	NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys)	NFIX (R121C +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1324805	NM_001365902.3(NFIX):c.373A>G (p.Lys125Glu)	NFIX (K117E +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1008488	NM_001365902.3(NFIX):c.379T>C (p.Trp127Arg)	NFIX (W119R +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2946196	NM_001365902.3(NFIX):c.384G>A (p.Arg128=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2930331	NM_001365902.3(NFIX):c.393G>C (p.Leu131=)	NFIX	Single nucleotide variant (synonymous variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2149397	NM_001365902.3(NFIX):c.393G>A (p.Leu131=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2946405	NM_001365902.3(NFIX):c.398T>C (p.Met133Thr)	NFIX (M149T +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 1933987	NM_001365902.3(NFIX):c.401T>C (p.Val134Ala)	NFIX (V134A +5 more)	Single nucleotide variant (missense variant)	Malan overgrowth syndrome +1 more	GUncertain significance
Select item 2064301	NM_001365902.3(NFIX):c.422C>G (p.Pro141Arg)	NFIX (P149R +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2065536	NM_001365902.3(NFIX):c.426G>A (p.Leu142=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2926966	NM_001365902.3(NFIX):c.459G>T (p.Ser153=)	NFIX	Single nucleotide variant (synonymous variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2138253	NM_001365902.3(NFIX):c.463C>T (p.Gln155Ter)	NFIX (Q155* +5 more)	Single nucleotide variant (nonsense)	Marshall-Smith syndrome +1 more	GPathogenic
Select item 2937806	NM_001365902.3(NFIX):c.477C>G (p.Pro159=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2948877	NM_001365902.3(NFIX):c.515_518del (p.Ile172fs)	NFIX (I172fs +5 more)	Deletion (frameshift variant)	Malan overgrowth syndrome +1 more	GPathogenic
Select item 1919814	NM_001365902.3(NFIX):c.523C>T (p.Leu175=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 1973670	NM_001365902.3(NFIX):c.555T>G (p.Thr185=)	NFIX	Single nucleotide variant (synonymous variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2152310	NM_001365902.3(NFIX):c.559G>T (p.Glu187Ter)	NFIX (E187* +5 more)	Single nucleotide variant (nonsense)	Malan overgrowth syndrome +1 more	GPathogenic
Select item 2927207	NM_001365902.3(NFIX):c.559+8G>A	NFIX	Single nucleotide variant (intron variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2049285	NM_001365902.3(NFIX):c.559+18A>G	NFIX	Single nucleotide variant (intron variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2029451	NM_001365902.3(NFIX):c.559+18A>T	NFIX	Single nucleotide variant (intron variant)	Malan overgrowth syndrome +1 more	GUncertain significance
Select item 1987446	NM_001365902.3(NFIX):c.559+23del	NFIX	Deletion (intron variant)	Marshall-Smith syndrome +1 more	GBenign
Select item 778708	NM_001365902.3(NFIX):c.560-6C>T	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2056864	NM_001365902.3(NFIX):c.564C>T (p.Ser188=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GBenign
Select item 2938931	NM_001365902.3(NFIX):c.567A>G (p.Gly189=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2931830	NM_001365902.3(NFIX):c.582A>C (p.Ser194=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 1342494	NM_001365902.3(NFIX):c.586C>T (p.Gln196Ter)	NFIX (Q149* +5 more)	Single nucleotide variant (nonsense)	Marshall-Smith syndrome +1 more	GPathogenic
Select item 2304868	NM_001365902.3(NFIX):c.599C>T (p.Ala200Val)	NFIX (A153V +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +2 more	GUncertain significance
Select item 783249	NM_001365902.3(NFIX):c.600G>A (p.Ala200=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 1583230	NM_001365902.3(NFIX):c.604A>G (p.Ile202Val)	NFIX (I210V +5 more)	Single nucleotide variant (missense variant)	Malan overgrowth syndrome +3 more	GLikely benign
Select item 2928381	NM_001365902.3(NFIX):c.612A>G (p.Pro204=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2921461	NM_001365902.3(NFIX):c.621C>T (p.Asn207=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2923310	NM_001365902.3(NFIX):c.622+4A>G	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2922702	NM_001365902.3(NFIX):c.622+5G>A	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2147384	NM_001365902.3(NFIX):c.622+8C>G	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GBenign
Select item 2945108	NM_001365902.3(NFIX):c.622+10C>T	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2937494	NM_001365902.3(NFIX):c.623G>A (p.Gly208Glu)	NFIX (G161E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 732740	NM_001365902.3(NFIX):c.628T>C (p.Leu210=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 748374	NM_001365902.3(NFIX):c.636C>T (p.Phe212=)	NFIX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2937802	NM_001365902.3(NFIX):c.674C>A (p.Thr225Lys)	NFIX (T217K +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GUncertain significance
Select item 2923051	NM_001365902.3(NFIX):c.675G>A (p.Thr225=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2068227	NM_001365902.3(NFIX):c.687_688dup (p.Val230fs)	NFIX (V230fs +5 more)	Microsatellite (frameshift variant)	Marshall-Smith syndrome +1 more	GPathogenic
Select item 1604735	NM_001365902.3(NFIX):c.690A>G (p.Val230=)	NFIX	Single nucleotide variant (synonymous variant)	Malan overgrowth syndrome +1 more	GLikely benign
Select item 2950276	NM_001365902.3(NFIX):c.697+17T>C	NFIX	Single nucleotide variant (intron variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 382742	NM_001365902.3(NFIX):c.698-12C>T	NFIX	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2950009	NM_001365902.3(NFIX):c.731C>G (p.Ser244Cys)	NFIX (S244C +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2931953	NM_001365902.3(NFIX):c.742C>T (p.Leu248=)	NFIX	Single nucleotide variant (synonymous variant)	Marshall-Smith syndrome +1 more	GLikely benign
Select item 2939211	NM_001365902.3(NFIX):c.764A>G (p.Asn255Ser)	NFIX (N247S +5 more)	Single nucleotide variant (missense variant)	Marshall-Smith syndrome +1 more	GUncertain significance

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